ClinVar Miner

Variants with conflicting interpretations studied for Nonsyndromic hearing loss and deafness

Coded as:
Minimum review status of the submission for Nonsyndromic hearing loss and deafness: Y axis collection method of the submission for Nonsyndromic hearing loss and deafness:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
150 60 17 57 4 5 20 90

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Nonsyndromic hearing loss and deafness pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 17 36 7 3 1 2
likely pathogenic 20 0 9 0 0 3
uncertain significance 2 1 0 1 0 0
likely benign 0 0 2 0 0 0
benign 0 0 1 2 0 0

Condition to condition summary #

Total conditions: 38
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Deafness, autosomal recessive 1A 0 21 11 24 0 0 4 32
not provided 0 68 0 10 3 0 5 18
Deafness, autosomal recessive 9 0 1 4 2 0 5 2 12
Deafness, autosomal dominant 3a 0 19 0 7 0 0 1 8
not specified 0 11 0 2 3 0 3 8
Nonsyndromic Hearing Loss, Dominant 0 1 0 2 2 0 3 7
Hearing impairment 0 15 0 5 0 0 0 5
Hearing loss 0 20 0 4 0 0 1 5
Nonsyndromic Hearing Loss, Recessive 0 2 0 2 2 0 1 5
Deafness, autosomal recessive 77 0 1 0 2 0 0 1 3
DFNA 2 Nonsyndromic Hearing Loss 0 0 1 1 0 0 0 2
Deafness, autosomal dominant 36 0 0 0 2 0 0 0 2
Deafness, autosomal dominant 9 0 1 0 1 0 0 1 2
Deafness, autosomal recessive 16 0 1 0 2 0 0 0 2
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 0 12 0 2 0 0 0 2
Deafness, autosomal recessive 3 0 5 0 0 0 0 2 2
Deafness, autosomal recessive 49 0 0 0 2 0 0 0 2
Deafness, autosomal recessive 63 0 0 0 2 0 0 0 2
Deafness, autosomal recessive 7 0 3 0 1 0 0 1 2
Deafness, autosomal recessive 8 0 4 0 1 0 0 1 2
Hystrix-like ichthyosis with deafness 0 0 0 0 0 0 2 2
Keratitis-Ichthyosis-Deafness Syndrome 0 0 0 0 0 0 2 2
Mutilating keratoderma 0 0 0 0 0 0 2 2
Auditory neuropathy, autosomal recessive, 1 0 0 0 1 0 0 0 1
Deafness, autosomal dominant 12 0 0 0 0 0 0 1 1
Deafness, autosomal dominant 13 0 0 0 1 0 0 0 1
Deafness, autosomal dominant 16 0 0 0 1 0 0 0 1
Deafness, autosomal dominant 20 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 21 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 22 0 0 0 1 0 0 0 1
Deafness, autosomal recessive 23 0 0 0 1 0 0 0 1
Deafness-infertility syndrome; Deafness, autosomal recessive 16; CATSPER-Related Male Infertility 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 4 0 1 0 0 0 1
Nonsyndromic hearing loss and deafness 292 7 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 0 0 0 0 0 1 1
Retinitis pigmentosa-deafness syndrome 0 0 0 1 0 0 0 1
Sensorineural deafness with hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
WFS1-Related Disorders 0 2 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 90
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_001038603.2(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115
NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177
NM_001277269.1(OTOG):c.535delG (p.Val179Trpfs) rs876657657
NM_001287489.1(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_001614.4(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_004004.5(GJB2):c.-23G>T rs786204734
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.269dupT (p.Val91Serfs) rs730880338
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.5(GJB2):c.31_68del38 (p.Gly11Leufs) rs397516873
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) rs756484720
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.5(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.564_565delGA (p.Lys188Asnfs) rs770116143
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.5(GJB2):c.647_650delGATA (p.Arg216Ilefs) rs587783647
NM_004004.5(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35dup (p.Val13Cysfs) rs80338939
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004086.2(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004100.4:c.724_(804_?)del
NM_004700.3(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004999.3(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) rs35107075
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) rs144682235
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_016239.3(MYO15A):c.6764+2T>A rs763975867
NM_016239.3(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676
NM_016239.3(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_024022.2(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198
NM_024022.2(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_033056.3(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_080680.2(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144672.3(OTOA):c.828delT (p.Ser277Valfs) rs751447996
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296
NM_153700.2(STRC):c.4171C>G rs376104748
NM_153700.2(STRC):c.4219-1G>A rs748854592
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_194248.2(OTOF):c.1045+2T>G rs111033341
NM_194248.2(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.2(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.2(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.2(OTOF):c.2348delG (p.Gly783Alafs) rs80356591
NM_194248.2(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.2(OTOF):c.2977_2978delAG (p.Gln994Valfs) rs397515597
NM_194248.2(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.2(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405
NM_194248.2(OTOF):c.5332G>T (p.Val1778Phe) rs111033330
NM_194248.2(OTOF):c.5410_5412delGAG (p.Glu1804del) rs397515607

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